Varaico: Literature-Extracted Genetic Variants

GRIK5

107 papers

RefSeq Summary

This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of l...

Pfam Domains

ANF_receptoraa 39–383UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 415–529UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 543–815UCSCLigand-gated ion channel

Gene Aliases

HGNC Name

glutamate ionotropic receptor kainate type subunit 5

HGNC Alias Symbols

GluK5; KA2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002088.5

p.G601W

c.1801G>T

Surrounding Variants

1 paper

NM_002088.5

p.G602V

c.1805G>T

1 paper

NM_002088.5

p.M611L

c.1831A>T

1 paper

NM_002088.5

p.M611L

c.1831A>C

1 paper

NM_002088.5

p.M611T

c.1832T>C

1 paper

NM_002088.5

p.A614T

c.1840G>A

1 paper

NM_002088.5

p.L615L

c.1843C>T

2 papers

NM_002088.5

p.R582H

c.1745G>A

1 paper

NM_002088.5

p.C578S

c.1733G>C

1 paper

NM_002088.5

p.C578S

c.1732T>A

1 paper

NM_002088.5

p.V560D

c.1679T>A

1 paper

NM_002088.5

p.R506W

c.1516C>T

1 paper

NM_002088.5

p.A499D

c.1496C>A